Known/Targeted/Custom mutation testing

CONDITION DESCRIPTION
INDICATIONS
Custom DNA sequencing testing is available for any previously characterized DNA variation in a family. This service can also confirm DNA variations identified in a research laboratory. Such confirmation allows release of research findings to the patient as well as prenatal diagnosis and carrier testing for other at-risk family members. To perform this assay we require details of the genetic variation in the family and a DNA sample from a previously tested individual as a positive control. Please contact CEN4GEN first to discuss this testing prior to sample collection.
METHODOLOGY
The region of DNA surrounding the mutation is amplified by PCR and sequenced in both the forward and reverse direction.
DETECTION
Over 99% of previously identified mutations will be detected by this assay.
SPECIMEN REQUIREMENTS
Submit only 1 of the following specimen types
* Preferred specimen type: Whole Blood